Canonical Allele Identifier: CA7559135

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50958629A>C , CM000677.2:g.50958629A>C	GRCh38
NC_000015.9:g.51250826A>C , CM000677.1:g.51250826A>C	GRCh37
NC_000015.8:g.49038118A>C	NCBI36
NG_031875.1:g.54958A>C
NG_031875.2:g.54958A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.1686A>C MANE Select	NP_031373.2:p.Thr562=
ENST00000261842.10:c.1686A>C MANE Select	ENSP00000261842.5:p.Thr562=
NM_001252127.1:c.1461A>C	NP_001239056.1:p.Thr487=
NM_001252127.2:c.1461A>C	NP_001239056.1:p.Thr487=
NM_007347.4:c.1686A>C	NP_031373.2:p.Thr562=
ENST00000261842.9:c.1686A>C	ENSP00000261842.5:p.Thr562=
ENST00000558439.5:c.*810A>C	ENSP00000452712.1:n.*810A>C
ENST00000560508.1:c.1461A>C	ENSP00000452976.1:p.Thr487=
ENST00000561393.5:c.*730A>C	ENSP00000452711.1:n.*730A>C
XM_005254264.2:c.1461A>C	XP_005254321.1:p.Thr487=
XM_005254264.4:c.1461A>C	XP_005254321.1:p.Thr487=
XM_006720447.2:c.1461A>C	XP_006720510.1:p.Thr487=
XM_006720447.4:c.1461A>C	XP_006720510.1:p.Thr487=
XM_011521408.1:c.1506A>C	XP_011519710.1:p.Thr502=
XM_011521409.1:c.336A>C	XP_011519711.1:p.Thr112=
XM_017022042.2:c.804A>C	XP_016877531.1:p.Thr268=
XR_001751183.1:n.1793A>C
XR_001751184.1:n.1793A>C
XR_001751185.1:n.1795A>C